54 research outputs found

    Digital transformation and tourist experience co-design: big social data for planning cultural tourism

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    Digital transformation has completely changed the demand/offering interaction in the travel industry, as well as largely affecting the customer journey. In this direction, “big social data” and user-generated content have become key sources of well-timed and rich knowledge supporting data driven decision approaches addressed the managing of complex relationships. Based on this theoretical framework, the paper suggests how to apply “big social data” in the tourist experience co-design, providing an increased value for the visitors and a better decision making approach for managers. In this respect, the field analysis concentrated specifically on user-generated content regarding the Pompeii Archaeological Site (P.A.S.), to trace valuable insights for the tourist experience. Based on double stage of research – netnographic analysis and a supplementary online survey – the study aimed to detect: (a) tourist perception on the P.A.S.; (b) random chat on the part of internet users (tourists and other browsers, not necessarily visitors) on the topic of the P.A.S.; (c) the main characteristics of the P.A.S. that attract internet user attention; (d) the main topics debated by influencers/opinion leaders managing online discussions on the P.A.S. managerial and theoretical implications were investigated highlighting the main limitations of the study as well

    Low Rates of Mother-to-Child HIV Transmission in a Routine Programmatic Setting in Lilongwe, Malawi

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    Background The Tingathe program utilizes community health workers to improve prevention of mother-to-child transmission (PMTCT) service delivery. We evaluated the impact of antiretroviral (ARV) regimen and maternal CD4+ count on HIV transmission within the Tingathe program in Lilongwe, Malawi. Methods We reviewed clinical records of 1088 mother-infant pairs enrolled from March 2009 to March 2011 who completed follow-up to first DNA PCR. Eligibility for antiretroviral treatment (ART) was determined by CD4+ cell count (CD4+) for women not yet on ART. ART-eligible women initiated stavudine-lamivudine-nevirapine. Early ART was defined as ART for ≥14 weeks prior to delivery. For women ineligible for ART, optimal ARV prophylaxis was maternal AZT ≥6 weeks+sdNVP, and infant sdNVP+AZT for 1 week. HIV transmission rates were determined for ARV regimens, and factors associated with vertical transmission were identified using bivariate logistic regression. Results Transmission rate at first PCR was 4.1%. Pairs receiving suboptimal ARV prophylaxis were more likely to transmit HIV (10.3%, 95% CI, 5.5–18.1%). ART was associated with reduced transmission (1.4%, 95% CI, 0.6–3.0%), with early ART associated with decreased transmission (no transmission), compared to all other treatment groups (p = 0.001). No association was detected between transmission and CD4+ categories (p = 0.337), trimester of pregnancy at enrollment (p = 0.100), or maternal age (p = 0.164). Conclusion Low rates of MTCT of HIV are possible in resource-constrained settings under routine programmatic conditions. No transmissions were observed among women on ART for more than 14 weeks prior to delivery

    Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

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    Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

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    Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

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    Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

    Large expert-curated database for benchmarking document similarity detection in biomedical literature search

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    Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

    The MAORY first-light adaptive optics module for E-ELT

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    The MAORY adaptive optics module is part of the first light instrumentation suite for the E-ELT. The MAORY project phase B is going to start soon. This paper contains a system-level overview of the current instrument design

    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

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    Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

    Ageing-related expression of Twinfilin-1 regulates cholangiocyte biological response to injury

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    I colangiociti, le cellule epiteliali che circondano i dotti biliari, sono i target e di un gruppo di malattie croniche biliari chiamate colangiopatie. Nonostante diverse evidenze suggeriscano il potenziale legame tra invecchiamento e insorgenza e progressione delle malattie epatobiliari, non è ancora noto se il processo di invecchiamento modula la biologia del colangiocita durante il danno del dotto biliare. Lo scopo di questo studio è quello di svelare percorsi molecolari legati al processo di invecchiamento e di valutare il loro possibile effetto nella fisiopatologia dei colangiociti. Un gruppo di microRNA (miR) coinvolti nel processo di invecchiamento, è stato valutato in colangiociti isolati da topi giovani e vecchi (rispettivamente di 2 mesi e 22 mesi) sottoposti ad un modello di colangite sclerosante, la dieta DDC. Mediante l’analisi in silico, è stato possibile identificare Twinfilin-1 (Twf1), una actin-binding protein coinvolta in processi cellulari mobili e morfologici, come presunto bersaglio molecolare comunemente regolato dai miRs considerati. In vitro, la senescenza e i componenti della SASP sono aumentati in colangiociti silenziati per Twf1 sottoposti a stimolo pro-proliferativo o pro-senescente (10 giorni con LPS). In vivo, I topi SAMP8, un modello di senescenza accelerata, mostrano un aumento della proliferazione biliare, della fibrosi e dell’espressione proteica di Twf1, mentre i topi Twf1-/- hanno una tendenza a ridurre la proliferazione biliare e la fibrosi in seguito alla somministrazione della DDC rispetto agli animali di controllo. Abbiamo identificato. Twf1 as come importante mediatore dell’adattamento dei colangiociti al processo di invecchiamento e risposta al danno. I nostri risultati suggeriscono che le colangiopatie e l’invecchiamento condividono pathways molecolari comuni. Una più profonda comprensione dei pathways intracellulari coinvolti nella modulazione della biologia dei colangiociti è essenziale per ideare nuove terapie efficaci per il trattamento delle colangiopatie che attualmente mancano. I nostri risultati permettono di identificare un possibile target molecolare che è capace di modulare differenti aspetti della patofisiologia dei colangiociti.Cholangiocytes, the epithelial cells which line the bile ducts, are the target of a group of chronic biliary diseases termed cholangiopathies. Despite several evidences suggest the potential link between ageing and cholangiopathies onset and progression, it is not yet known whether ageing modulates cholangiocyte biology during bile duct injury. The aim of this study is to unveil molecular pathways related to ageing process and to evaluate their effect in the pathophysiology of cholangiocytes. A panel of microRNAs (miRs) involved in ageing process, was evaluated in cholangiocytes isolated by young and old mice (2-month and 22-month of age respectively) subjected to a model of sclerosing cholangitis, the DDC diet. By in silico analysis, it was possible to identify Twinfilin-1 (Twf1),an actin-binding protein involved in motile and morphological cellular processes, as putative molecular target commonly regulated by miRs taken into account. In vitro, senescence and SASP markers expression was increased in Twf1 knocked-down cholangiocytes upon pro-proliferative and pro-senescent (10 days LPS) stimulation. In vivo, SAMP8 mice, a model of accelerated senescence, showed increased biliary proliferation, fibrosis and Twf1 protein expression level, whereasTwf1-/- had a tendency to reduce biliary proliferation and fibrosis upon DDC administration compared to control animals. We identified Twf1 as an important mediator of both cholangiocyte adaptation to ageing processes and response to injury. Our findings suggest that cholangiopathies and aging might share common molecular pathways. A deeper understanding of intracellular pathways involved in the modulation of cholangiocyte biology is essential to devise novel effective therapies for cholangiopathies treatment which are currently lacking. Our findings allow the identification of a possible molecular target which is able to modulate different aspects of cholangiocyte pathophysiology
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